amegakaryocytic thrombocytopenia, congenital, 2
MONDO:0957575
A congenital amegakaryocytic thrombocytopenia caused by a variation in the THPO gene, which encodes thrombopoietin, characterized by infantile- or early childhood-onset thrombocytopenia with markedly reduced or absent megakaryocytes, often progressing to pancytopenia, aplastic anemia, and hypocellular bone marrow, with decreased or inappropriately normal serum thrombopoietin.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
MONDO disease family
Recruiting studies by city
Trial status
Trial phase
Study start year
Investigated drug interventions
Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.